Canonical Allele Identifier: CA356137270

Gene: MSX1

Linked Data

• dbSNP Id: rs1560309408
• gnomAD v4: 4-4860057-A-G
• MyVariant Identifiers: chr4:g.4861784A>G (hg19) ; chr4:g.4860057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.4860057A>G , CM000666.2:g.4860057A>G	GRCh38
NC_000004.11:g.4861784A>G , CM000666.1:g.4861784A>G	GRCh37
NC_000004.10:g.4912685A>G	NCBI36
NG_008121.1:g.5393A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382723.5:c.158A>G MANE Select	ENSP00000372170.4:p.Lys53Arg
ENST00000382723.4:c.158A>G	ENSP00000372170.4:p.Lys53Arg
NM_002448.3:c.158A>G MANE Select	NP_002439.2:p.Lys53Arg